Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient

Hum Mol Genet. 1994 Nov;3(11):2063-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Frameshift Mutation / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Pancreas
  • Sequence Deletion*

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator